Canonical Allele Identifier: CA290436

Gene: COQ6

Linked Data

• ClinVar Variation Id: 136981
• ClinVar RCV Id: RCV000124543 ; RCV002055510
• dbSNP Id: rs60369619
• ExAC: 14:74417209 C / T
• gnomAD v2: 14-74417209-C-T
• gnomAD v3: 14-73950506-C-T
• gnomAD v4: 14-73950506-C-T
• MyVariant Identifiers: chr14:g.74417209C>T (hg19) ; chr14:g.73950506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73950506C>T , CM000676.2:g.73950506C>T	GRCh38
NC_000014.8:g.74417209C>T , CM000676.1:g.74417209C>T	GRCh37
NC_000014.7:g.73486962C>T	NCBI36
NG_032805.1:g.5573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.163+11C>T MANE Select	ENSP00000333946.2:n.163+11C>T
ENST00000238709.8:c.160+11C>T	ENSP00000238709.5:n.160+11C>T
ENST00000334571.6:c.163+11C>T	ENSP00000333946.2:n.163+11C>T
ENST00000394026.8:c.88+326C>T	ENSP00000377594.4:n.88+326C>T
ENST00000553462.6:n.70+218C>T
ENST00000553922.5:n.197C>T
ENST00000554153.5:c.163+11C>T	ENSP00000451685.1:n.163+11C>T
ENST00000554193.5:n.186+11C>T
ENST00000554217.5:n.186+11C>T
ENST00000554341.6:c.88+326C>T	ENSP00000450736.2:n.88+326C>T
ENST00000554920.5:c.163+11C>T	ENSP00000451562.1:n.163+11C>T
ENST00000555196.5:c.-95C>T	ENSP00000451301.1:n.-95C>T
ENST00000555552.5:n.186+11C>T
ENST00000556300.6:n.197+11C>T
ENST00000557205.6:n.186+11C>T
ENST00000557584.5:c.163+11C>T	ENSP00000450511.1:n.163+11C>T
ENST00000629426.2:c.-4+11C>T	ENSP00000486650.1:n.-4+11C>T
NM_182476.2:c.163+11C>T	NP_872282.1:n.163+11C>T
NM_182480.2:c.88+326C>T	NP_872286.2:n.88+326C>T
XM_005267716.1:c.57+11C>T	XP_005267773.1:n.57+11C>T
XM_006720156.1:c.-256C>T	XP_006720219.1:n.-256C>T
XM_011536807.1:c.163+11C>T	XP_011535109.1:n.163+11C>T
XM_011536808.1:c.-95C>T	XP_011535110.1:n.-95C>T
XM_011536809.1:c.-4+326C>T	XP_011535111.1:n.-4+326C>T
XM_011536810.1:c.163+11C>T	XP_011535112.1:n.163+11C>T
XR_943465.1:n.216+11C>T
XR_943466.1:n.216+11C>T
XM_011536807.2:c.163+11C>T	XP_011535109.1:n.163+11C>T
XM_011536808.2:c.-95C>T	XP_011535110.1:n.-95C>T
XM_011536809.3:c.-4+326C>T	XP_011535111.1:n.-4+326C>T
XM_011536810.3:c.163+11C>T	XP_011535112.1:n.163+11C>T
XM_017021351.2:c.-247+11C>T	XP_016876840.1:n.-247+11C>T
XM_017021352.2:c.-1078+11C>T	XP_016876841.1:n.-1078+11C>T
XR_001750342.1:n.186+11C>T
XR_943465.3:n.193+11C>T
XR_943466.3:n.193+11C>T
NM_182476.3:c.163+11C>T MANE Select	NP_872282.1:n.163+11C>T
NM_182480.3:c.88+326C>T	NP_872286.2:n.88+326C>T